"Ambry Genetics"[submitter] AND "RBM34"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2398327	NM_015014.4(RBM34):c.1265G>A (p.Arg422His)	RBM34 (R422H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152337	NM_015014.4(RBM34):c.1232A>C (p.Lys411Thr)	RBM34 (K410T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511238	NM_015014.4(RBM34):c.1229T>G (p.Leu410Arg)	RBM34 (L410R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313277	NM_015014.4(RBM34):c.1220C>T (p.Ala407Val)	RBM34 (A407V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301423	NM_015014.4(RBM34):c.1139T>G (p.Val380Gly)	RBM34 (V380G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330894	NM_015014.4(RBM34):c.1123C>A (p.Pro375Thr)	RBM34 (P374T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152336	NM_015014.4(RBM34):c.1082G>T (p.Arg361Leu)	RBM34 (R360L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152335	NM_015014.4(RBM34):c.1058T>A (p.Met353Lys)	RBM34 (M352K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339904	NM_015014.4(RBM34):c.1057A>C (p.Met353Leu)	RBM34 (M352L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358402	NM_015014.4(RBM34):c.1034T>C (p.Leu345Pro)	RBM34 (L344P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152334	NM_015014.4(RBM34):c.1028T>G (p.Leu343Arg)	RBM34 (L342R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313276	NM_015014.4(RBM34):c.1021G>A (p.Val341Ile)	RBM34 (V341I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313275	NM_015014.4(RBM34):c.947T>C (p.Val316Ala)	RBM34 (V316A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518150	NM_015014.4(RBM34):c.946G>A (p.Val316Met)	RBM34 (V315M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621019	NM_015014.4(RBM34):c.937A>C (p.Ile313Leu)	RBM34 (I313L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152341	NM_015014.4(RBM34):c.899A>G (p.Glu300Gly)	RBM34 (E300G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313278	NM_015014.4(RBM34):c.821G>C (p.Arg274Thr)	RBM34 (R274T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152340	NM_015014.4(RBM34):c.770C>T (p.Thr257Met)	RBM34 (T257M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152339	NM_015014.4(RBM34):c.764C>T (p.Ala255Val)	RBM34 (A255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372667	NM_015014.4(RBM34):c.674C>T (p.Thr225Met)	RBM34 (T225M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470212	NM_015014.4(RBM34):c.623A>G (p.Tyr208Cys)	RBM34 (Y208C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483720	NM_015014.4(RBM34):c.554G>A (p.Arg185Lys)	RBM34 (R185K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621782	NM_015014.4(RBM34):c.517C>G (p.Gln173Glu)	RBM34 (Q173E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296110	NM_015014.4(RBM34):c.454G>A (p.Val152Ile)	RBM34 (V152I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609115	NM_015014.4(RBM34):c.424A>G (p.Lys142Glu)	RBM34 (K142E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568576	NM_015014.4(RBM34):c.380C>T (p.Ala127Val)	RBM34 (A127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233314	NM_015014.4(RBM34):c.364A>G (p.Arg122Gly)	LOC126806059, RBM34 (R122G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616499	NM_015014.4(RBM34):c.326A>G (p.Lys109Arg)	LOC126806059, RBM34 (K109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329033	NM_015014.4(RBM34):c.286A>G (p.Arg96Gly)	LOC126806059, RBM34 (R96G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563756	NM_015014.4(RBM34):c.281T>C (p.Ile94Thr)	LOC126806059, RBM34 (I94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152338	NM_015014.4(RBM34):c.250C>T (p.Arg84Trp)	LOC126806059, RBM34 (R84W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456009	NM_015014.4(RBM34):c.232A>G (p.Thr78Ala)	LOC126806059, RBM34 (T78A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215499	NM_015014.4(RBM34):c.198G>C (p.Gln66His)	LOC126806059, RBM34 (Q66H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2587971	NM_015014.4(RBM34):c.44T>C (p.Val15Ala)	LOC126806059, RBM34 (V15A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2365107	NM_015014.4(RBM34):c.36G>T (p.Lys12Asn)	LOC126806059, RBM34 (K12N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622070	NM_015014.4(RBM34):c.9G>T (p.Leu3Phe)	LOC126806059, RBM34 (L3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 36